CRISPR/Cas9 technology generated a 2 bp deletion (CC) in exon 3, resulting in a frameshift at residue 90 which putatively should generate an aberrant protein of 111 amino acids instead of 269-residue protein. Western blot analysis with an antibody against the central region of the protein did not detect protein in homozygous mice. (J:307382)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count